Generation of induced pluripotent stem cells (iPSCs) from an infant with Pompe disease carrying with compound mutations of R608X and E888X in GAA gene

Generation of induced pluripotent stem cells (iPSCs) from an infant with Pompe disease carrying with compound mutations of R608X and E888X in GAA gene

Blog Article

Induced pluripotent stem cells (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from the Figure Skating - Blades peripheral blood of a five months-old boy with glycogen storage disease type II(GSD II, also known as Pompe disease, PD) carries compound mutations R608X E888X in GAA gene.PBMCs were reprogrammed using non-integrative Sendai viral vectors containing reprogramming factors OCT4, SOX2, KLF4 and C-MYC.iPSCs were shown to express pluripotent markers, have trilineage differentiation potential, carry GAA-R608X and GAA-E888X compound mutations, have Pet Supplies a normal karyotype.It is useful tool for studying GSDII.